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Agustin Rodriguez Palmero Seuma

 https://orcid.org/0000-0002-4141-5515
    20202024

    Research activity per year

    Personal profile

    Expertise related to UN Sustainable Development Goals

    In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

    1. SDG 3 - Good Health and Well-being
      SDG 3 Good Health and Well-being

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    • Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

      Launay, N., Espinosa-Alcantud, M. D., Verdura, E., Fernández-Eulate, G., Ondaro, J., Iruzubieta, P., Marsal, M., Schlüter, A., Ruiz, M., Fourcade, S., Rodríguez-Palmero, A., Zulaica, M., Sistiaga, A., Labayru, G., Loza-Alvarez, P., Vaquero, A., Lopez de Munain, A. & Pujol, A., 16 Oct 2024, In: Aging Cell. 24, 1, 15 p., e14355.

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      4   Link opens in a new tab Citations (Scopus)

    • Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

      Hwang, A., Stefani, S., Lau, T., Scala, M., Aynekin, B., Bernardo, P., Madia, F., Bakhtadze, S., Kaiyrzhanov, R., Maroofian, R., Zara, F., Srinivasan, V. M., Gowda, V., Guliyeva, U., Montavont, A., Poulat, A.-L., Güleç, A., Berger, C., Ville, D. M. & De Bellescize, J. & 17 others, Cabet, S., Wonneberger, A., Schulz, A., Rodríguez-Palmero, A., Chatron, N., Lesca, G., Per, H., Goel, H., Brown, J., Frey, T., Steindl, K., Rauch, A., Severino, M., Houlden, H., Nicolaides, P., Striano, P. & Efthymiou, S., 2024, In: Neurology: Genetics. 10, 4

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      7   Link opens in a new tab Citations (Scopus)

    • Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

      Bellos, E., Santillo, D., Vantourout, P., Jackson, H. R., Duret, A., Hearn, H., Seeleuthner, Y., Talouarn, E., Hodeib, S., Patel, H., Powell, O., Yeoh, S., Mustafa, S., Habgood-Coote, D., Nichols, S., Estremiana-Elorrieta, L., D'Souza, G., Wright, V., Estrada-Rivadeneyra, D. & Tremoulet, A. & 75 others, Dummer, K., Netea, S., Condino-Neto, A., Lau, Y. L., Nuñez Cuadros, E., Toubiana, J., Holanda Pena, M., Rieux-Laucat, F., Luyt, C.-E., Haerynck, F., Mége, J.-L., Chakravorty, S., Haddad, E., Morin, M. P., Metin Akcan, Ö., Keles, S., Emiroglu, M., Alkan, G., Kübra Tüter Öz, S., Bozdemir, S. E., Morelle, G., Volokha, A., Kendir-Demirkol, Y., Sözeri, B., Coskuner, T., Yahsi, A., Gulhan, B., Kanik-Yuksek, S., Bayhan, G. I., Ozkaya-Parlakay, A., Yesilbas, O., Hatipoglu, N., Ozcelik, T., Belot, A., Chopin, E., Barlogis, V., Sevketoglu, E., Menentoglu, E., Gayretli Aydin, Z. G., Bloomfield, M., AlKhater, S., Cyrus, C., Stepanovskiy, Y., Bondarenko, A., Öz, F. N., Polat, M., Fremuth, J., Lebl, J., Geraldo, A., Jouanguy, E., Carter, M. J., Wellman, P., Peters, M., Perez de Diego, R., Edwards, L. A., Chiu, C., Noursadeghi, M., Bolze, A., Shimizu, C., Kaforou, M., Hamilton, M. S., Herberg, J. A., Schmitt, E. G., Rodríguez-Palmero, A., Pujol, A., Kim, J., Cobat, A., Abel, L., Zhang, S. Y., Casanova, J.-L., Kuijpers, T. W., Burns, J. C., Levin, M., Hayday, A. C. & Sancho Shimizu, V., 2024, In: Journal of Experimental Medicine. 221, 12

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      11   Link opens in a new tab Citations (Scopus)

    • ClinPrior : an algorithm for diagnosis and novel gene discovery by network-based prioritization

      Schlüter, A., Vélez-Santamaría, V., Verdura, E., Rodríguez-Palmero, A., Ruiz, M., Fourcade, S., Planas-Serra, L., Launay, N., Guilera, C., Martínez, J. J., Homedes-Pedret, C., Albertí-Aguiló, M. A., Zulaika, M., Martí, I., Troncoso, M., Tomás-Vila, M., Bullich Vilanova, G., García-Pérez, M. A., Sobrido-Gómez, M.-J. & López-Laso, E. & 10 others, Fons, C., Del Toro, M., Macaya Ruiz, A., Beltran i Agulló, S., Gutiérrez-Solana, L. G., Pérez-Jurado, L. A., Aguilera-Albesa, S., de Munain, A. L., Casasnovas, C. & Pujol, A., 2023, In: Genome Medicine. 15

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      6   Link opens in a new tab Citations (Scopus)

    • Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

      Rovira-Remisa, M. M., Moreira, M., Ventura-Wichner, P. S., Gonzalez-Alvarez, P., Mestres, N., Graterol Torres, F., Joaquín, C., Rodríguez-Palmero, A., Martínez-Colls, M. D. M., Roche, A., Ibáñez-Micó, S., López-Laso, E., Méndez-Hernández, M. J., Murillo-Vallés, M., Monlleó-Neila, L., Maqueda-Castellote, E., Del Toro, M., Felipe-Rucián, A., Giralt López, M. & Cortès-Saladelafont, E., Jun 2023, In: Molecular Genetics and Metabolism Reports. 35, p. 100962-100962 1 p., 100962.

      Research output: Contribution to journal › Article › Research › peer-review

      Open Access
      3   Link opens in a new tab Citations (Scopus)
    View all 15 research outputs